Haemochromatosis

It Happened To Me
From the IRISH TIMES, July 29, 2008

It was the last day of February 2007 when the phone call came. I went straight to the surgery. After a few pleasantries my GP asked me was I heavy drinker. Actually, I have done a fair bit of drinking in my day, but I told him that until just recently I had been off the drink for a year to lose weight. In recent years I had been increasingly crippled with arthritis and a few months earlier had had successful surgery for a right knee replacement.

He then explained to me that my iron levels – whatever they were, I thought – were dangerously high, possibly as a result of alcohol abuse. With that eliminated he admitted to being in the dark and decided to send me to a specialist – a haematologist.

I knew that something hadn’t been right for a while. After Christmas I was tired and irritable, my joints were swollen and aching more than ever. Over weeks I had had numerous tests but nothing was found. However, one conscientious nurse at the practice decided to run a battery of blood tests for various things – even though the surgery, she said, didn’t usually do this and couldn’t afford such screening as a general rule.

The doctor had spoken about my “ferritin levels” being astronomical and so, long before I arrived at the City Hospital two months later, I had deduced from internet searches that what I had was probably haemochromatosis. My consultant talked me through my family history. My older sister, Geraldine, after many miserable years, was discovered to be suffering from celiac disease, an auto immune disorder caused by a reaction to gluten. My younger sister Susan died in 2001 from primary biliary cirrhosis, another autoimmune disease which eventually destroyed her liver, heart and lungs.

He asked me did I ever experience any swelling along the second and third joints of my hand. I said I had for about five years but had attributed it initially to sports injuries on the squash court and had to stop playing when the hands became arthritic. He said that was a classic sign of haemochromatosis and added that the only treatment was regular bloodletting or venesections. I asked to start the venesections right away and was sent to the Bridgewater Suite where I have been for weekly treatment ever since. In fifty sessions they have taken the equivalent of five gallons of blood from me.

Most people absorb from their dietary intake about 10% of the iron that they need for making red blood cells. But people with haemochromatosis absorb up to 50% or more of iron from their food. The body doesn’t know what to do with the extra iron and so stores it in the liver, pancreas, heart, bone marrow and joints where it is toxic and begins destroying cells and can induce liver cancer or a heart attack. The normal range of serum ferritin in a male is 12-300 ng/ml (nanograms per milliliter). Mine was at 5,200 last August, even after thirteen venesections, but has come down gradually. I am now enjoying a six-week break before the treatment is resumed.

A genetic test confirmed that the disease I had was hereditary haemochromatosis, HH, as a result of mutant gene C282Y inherited from each parent. My sons were tested and were clear but my brother’s results showed an iron overload of 1,500 and he too now is being regularly bled. The disease goes undetected – often until it is too late and organ damage has occurred. This is because the symptoms are often mild or mimic many other ailments; and because many GPs are completely unaware of its prevalence despite the fact that it is the most common hereditary disease among those of Northern European ancestry, in particular those of Irish descent and has even been referred to as the Celtic disease. Earlier this year the Downpatrick-born, London ‘Independent’ satirist, Miles Kington, died from pancreatic cancer as a result of the disease. Others reckoned to have succumbed include Beethoven and Ernest Hemingway’s father, ‘Doc Ed’.

A few months ago I had a biopsy after certain liver enzymes were elevated. The results revealed that I had fibrosis of the liver, short of cirrhosis, and was advised to stop drinking or certainly keep within recommended government guidelines.

The disease has made me more conscious of my mortality. At the hospital I see many faces I recognise (the suite also deals with patients on chemo) and though there is a lot of sadness and suffering there is a great feeling of solidarity and friendship among the patients and staff.

My routine is to go in early, get a bed, get a blood test to check that my haemoglobin is okay (to ensure the opposite – anaemia – hasn’t occurred) and establish my ferritin level, then have the venesection and rest for a while. Some people watch television, I prefer to read, though I have to be careful not to laugh too loudly at my hero Rumpole sitting in Pommeroy’s wine bar, contemplating the tail end of a bottle of Château Fleet Street and putting off the moment when he has to return home to She Who Must Be Obeyed!

The needles used for the venesection are large and my veins are quite small which often means a couple of attempts in my pin-cushion-arms before they strike oil. A few hours later I sometimes feel tired and need to lie down again.

I am due to have my left knee replaced in September and regularly the arthritis flares up in my feet, hands and wrists, most likely initiated by the haemochromatosis.

In a medical book last year, ‘Survival of the Sickest’, Dr Sharon Moalem explained that during the pandemic Black Death in 14th century Europe, which killed perhaps 50% of all healthy men and women, people with haemochromatosis had better resistance and survived!